Second Opinion on Leukemia

The term “leukemia” refers to a group of diseases of the hematopoietic system in which immature white blood cells (leukocytes) multiply uncontrollably and replace normal blood-forming cells. The disease is also known as blood cancer. It can occur in an acute or chronic form and affects people of all ages, although the risk of developing leukemia increases with age.

How does leukemia develop?

Under normal conditions, human blood cells have a limited lifespan:

• Red blood cells (erythrocytes) live for approximately 120 days.
• Platelets and many white blood cells (leukocytes) survive from several days to several weeks.

Therefore, the body constantly eliminates aging blood cells and produces new ones.

As a result, a deficiency of red blood cells, functional white blood cells, and platelets develops. Leukemia cells leave the blood-forming bone marrow, enter the bloodstream, circulate throughout the body, and may spread to various organs and tissues.

Types of leukemia

Depending on the disease course and the type of affected blood cells, leukemias are classified into different forms.

According to the disease course:

• Acute leukemia is characterized by rapid proliferation of leukemic cells and requires immediate intensive treatment.
• Chronic leukemia develops gradually and is often detected incidentally during routine medical examinations or blood tests.

According to the type of affected cells:

• myeloid leukemia;
• lmphoid (lymphocytic) leukemia.
• Based on these characteristics, four major types of leukemia are distinguished:
• acute myeloid leukemia (AML);
• acute lymphoblastic leukemia (ALL);
• chronic myeloid leukemia (CML);
• chronic lymphocytic leukemia (CLL).

In clinical practice, different types of leukemia occur with varying frequency. According to cancer registry data, chronic lymphocytic leukemia (CLL) is the most common type in adults, accounting for approximately 38% of all newly diagnosed cases. Acute myeloid leukemia (AML) occurs in adults about 4.5 times more frequently than acute lymphoblastic leukemia (ALL), whereas ALL is the most common type of leukemia in children.

Causes and Risk Factors

The development of leukemia is a complex, likely multifactorial process. In most cases, the exact cause of the disease cannot be identified. However, it is known that leukemia is associated with genetic changes (mutations) in the cells of the hematopoietic system. These changes give malignant cells a growth advantage, allowing them to multiply more rapidly and survive longer in the body.

Long-term exposure to mutagenic chemicals, such as benzene and 1,3-butadiene, may also contribute to the risk, along with genetic factors. For example, people with Down syndrome have an increased risk of developing certain types of leukemia.

Symptoms of Leukemia

The first symptoms of leukemia are often nonspecific and may occur in other medical conditions. They are caused by the replacement of normal blood cells, impaired blood cell function, and the spread of leukemic cells. The severity of symptoms depends on the type and course of the disease.

Acute leukemias usually develop rapidly. The most common symptoms include weakness, increased fatigue, pallor, and reduced physical performance due to anemia. Other possible signs include recurrent infections and fever caused by a decreased number of functional white blood cells, increased bleeding tendency due to a low platelet count, night sweats, and unexplained weight loss. Enlarged lymph nodes may occur, and spleen and liver enlargement can cause a feeling of pressure or pain in the upper abdomen.

Chronic leukemias often develop gradually and may remain asymptomatic for a long time. The disease is frequently detected incidentally during a blood test. Early signs may include fatigue, reduced performance, and increased susceptibility to infections. If the central nervous system is affected, symptoms such as headaches, nausea, visual disturbances, and other neurological symptoms may occur.

What tests are performed when leukemia is suspected?

The diagnosis of leukemia involves several stages:

• Medical history and clinical examination include assessment of symptoms, family history, and examination of the lymph nodes, liver, and spleen for possible abnormalities.
• Blood tests is the primary diagnostic method. A complete blood count (CBC) and differential blood count help detect anemia, abnormalities in the number and appearance of blood cells, including an increased number of immature white blood cells.
• Bone marrow examination is performed to confirm the diagnosis through bone marrow aspiration. The sample is evaluated using morphological analysis, immunophenotyping (flow cytometry), and molecular genetic testing. Identification of specific mutations is important for prognosis assessment and treatment selection.
• Imaging studies are used mainly to evaluate disease spread (staging) and assess the condition of internal organs:
• Ultrasound (US) is a method to evaluate the size and structure of the liver, spleen, and lymph nodes;
• Computed tomography (CT) is useful for detailed assessment of affected organs and lymph nodes;
• Magnetic resonance imaging (MRI) is necessary when the involvement of the central nervous system is suspected;
• Positron emission tomography/computed tomography (PET/CT) is used in selected cases, particularly for treatment response evaluation.

Modern treatment strategy for leukemia

The treatment of leukemia is currently based on a comprehensive approach that takes into account the type of disease, genetic characteristics of tumor cells, the patient’s age, and individual risk factors. The main goals of therapy are to eliminate leukemic cells, achieve durable remission, and prevent disease relapse.

Chemotherapy remains one of the fundamental treatment methods, particularly for acute leukemias. Modern treatment protocols use combinations of drugs designed to inhibit the growth and division of malignant cells. The choice of regimen depends on the specific type of leukemia and the individual characteristics of the disease.

In recent years, targeted therapy has advanced significantly, focusing on specific molecular abnormalities that contribute to the growth and survival of leukemic cells. For example, in chronic myeloid leukemia (CML), tyrosine kinase inhibitors are used to block the activity of the BCR-ABL protein, which drives uncontrolled tumor cell growth. In other forms of leukemia, targeted drugs may be directed against specific mutations or surface markers of leukemic cells.

An important area of modern treatment is immunotherapy, which activates the patient’s immune system to fight cancer. Current immunotherapeutic approaches include monoclonal antibodies and bispecific antibodies that help immune cells recognize and destroy malignant cells.

One of the most innovative approaches is CAR-T cell therapy. During this treatment, the patient’s own T lymphocytes are genetically modified in a laboratory by introducing a special chimeric antigen receptor (CAR) that enables them to recognize specific antigens on the surface of leukemic cells. After being returned to the patient’s body, these modified cells can actively attack and eliminate tumor cells. To date, CAR-T therapy has demonstrated high efficacy in relapsed or refractory forms of acute lymphoblastic leukemia (ALL) and certain lymphomas. New generations of CAR-T products are currently being developed, including universal (“off-the-shelf”) cellular therapies that can be used without the need to manufacture the treatment from an individual patient’s cells.

Hematopoietic stem cell transplantation (HSCT) is used for high-risk leukemias and certain relapsed forms of the disease. Allogeneic transplantation restores normal blood formation and provides an additional anti-tumor effect through the immune response of donor cells against the patient’s leukemic cells.

An important role is also played by molecular and immunological monitoring of minimal residual disease (MRD) using highly sensitive methods, including liquid biopsy approaches. These methods allow the detection of very small numbers of remaining leukemic cells and enable timely adjustment of treatment strategies.

The combination of chemotherapy, targeted drugs, immune-based therapies, and transplantation significantly expands the possibilities for disease control and improves long-term treatment outcomes.

Supportive Therapy

An important component of comprehensive leukemia treatment is the management of complications caused by the disease itself and by anticancer therapies. Since leukemia and its treatment can reduce the number of normal blood cells and increase the risk of infections, anemia, and bleeding, patients may require supportive measures such as blood component transfusions (red blood cells and platelets), prevention and treatment of infectious complications, including the use of antibacterial, antiviral, and antifungal medications. Supportive care also includes monitoring and managing treatment-related side effects, correcting metabolic abnormalities, and maintaining the patient’s overall condition.

Regular monitoring of the patient’s health status and evaluation of treatment response play a key role in supportive therapy. Depending on the type of leukemia, medications may be used to prevent relapse, maintain remission, and reduce the risk of complications. Modern supportive care involves an individualized approach based on the type of leukemia, the treatment regimen, the patient’s immune status, and overall health. This strategy improves treatment tolerance, enhances quality of life, and contributes to better overall outcomes.